Submissions for variant NM_000057.4(BLM):c.2919C>T (p.Tyr973=)

gnomAD frequency: 0.00066  dbSNP: rs181161119

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000322377	SCV000345813	uncertain significance	not provided	2016-09-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079416	SCV000555840	likely benign	Bloom syndrome	2025-01-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566804	SCV000672930	likely benign	Hereditary cancer-predisposing syndrome	2017-06-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000322377	SCV002006795	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001820844	SCV002069625	likely benign	not specified	2021-07-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000566804	SCV002531827	likely benign	Hereditary cancer-predisposing syndrome	2021-01-12	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000322377	SCV002774104	likely benign	not provided	2022-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000322377	SCV004130910	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	BLM: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001820844	SCV005077337	likely benign	not specified	2024-04-07	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001079416	SCV001454868	likely benign	Bloom syndrome	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003910047	SCV004718155	likely benign	BLM-related disorder	2019-06-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).